日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

一种新的 NAA10 变体,乙酰转移酶活性受损,导致发育迟缓、智力障碍和肥厚性心肌病

Svein Isungset Støve, Marina Blenski, Asbjørg Stray-Pedersen, Klaas J Wierenga, Shalini N Jhangiani, Zeynep Coban Akdemir, David Crawford, Nina McTiernan, Line M Myklebust, Gabriela Purcarin, Rene McNall-Knapp, Alexandrea Wadley, John W Belmont, Jeffrey J Kim, James R Lupski, Thomas Arnesen

NAA10 dysfunction with normal NatA-complex activity in a girl with non-syndromic ID and a de novo NAA10 p.(V111G) variant - a case report

一名患有非综合征性智力残疾和新生 NAA10 p.(V111G) 变异的女孩出现 NAA10 功能障碍,但 NatA 复合物活性正常 - 病例报告

Nina McTiernan, Svein Isungset Støve, Ingvild Aukrust, Marita Torrisen Mårli, Line M Myklebust, Gunnar Houge, Thomas Arnesen

A Role for Human N-alpha Acetyltransferase 30 (Naa30) in Maintaining Mitochondrial Integrity

人类 N-α 乙酰转移酶 30 (Naa30) 在维持线粒体完整性中的作用

Petra Van Damme, Thomas V Kalvik, Kristian K Starheim, Veronique Jonckheere, Line M Myklebust, Gerben Menschaert, Jan Erik Varhaug, Kris Gevaert, Thomas Arnesen

Downregulation of N-terminal acetylation triggers ABA-mediated drought responses in Arabidopsis

端乙酰化的下调引发拟南芥中 ABA 介导的干旱反应

Eric Linster, Iwona Stephan, Willy V Bienvenut, Jodi Maple-Grødem, Line M Myklebust, Monika Huber, Michael Reichelt, Carsten Sticht, Simon Geir Møller, Thierry Meinnel, Thomas Arnesen, Carmela Giglione, Rüdiger Hell, Markus Wirtz

Biochemical and cellular analysis of Ogden syndrome reveals downstream Nt-acetylation defects

Ogden 综合征的生化和细胞分析揭示了下游 Nt 乙酰化缺陷

Line M Myklebust, Petra Van Damme, Svein I Støve, Max J Dörfel, Angèle Abboud, Thomas V Kalvik, Cedric Grauffel, Veronique Jonckheere, Yiyang Wu, Jeffrey Swensen, Hanna Kaasa, Glen Liszczak, Ronen Marmorstein, Nathalie Reuter, Gholson J Lyon, Kris Gevaert, Thomas Arnesen